Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
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Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest. We identified 6 rare missense variants in the SQSTM1 and VCP in 7 sIBM patients (4.0%). Two variants, the SQSTM1 p.G194R and the VCP p.R159C, were significantly overrepresented in this sIBM cohort compared with controls. Five of these variants had been previously reported in patients with degenerative diseases. The messenger RNA levels of major histocompatibility complex genes were upregulated, this elevation being more pronounced in SQSTM1 patient group. We report for the first time potentially pathogenic SQSTM1 variants and expand the spectrum of VCP variants in sIBM. These data suggest that defects in neurodegenerative pathways may confer genetic susceptibility to sIBM and reinforce the mechanistic overlap in these neurodegenerative disorders.
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SQSTM1 mutations are a rare cause of ALS-FTD, accounting for ~1-3.5% of cases with or without family history, and also cause Paget's disease of bone and inclusion body myositis.
“SQSTM1 mutations are not only a rare cause of ALS-FTD, accounting for ~1-3.5% of cases with or without family history [123–125], but also Paget’s disease of bone (PDB), a chronic and progressive skeletal disorder characterized by disorganized bone turnover [126,127], and inclusion body myositis (IBM) [128].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [128]
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- Authors
- Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., Shieh, P. B., Needham, M., Liang, C., Zanoteli, E., de Camargo, L. V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R. J., Dimachkie, M. M., Mora, M., Mantegazza, R., Zanotti, S., Singleton, A. B., Hanna, M. G., Houlden, H., Hanna, M. G., Houlden, H., Machado, P. M., Gang, Q., Bettencourt, C., Healy, E., Parton, M., Holton, J. L., Brady, S., Hilton-Jones, D., Shieh, P. B., Zanoteli, E., de Camargo, L. V., De Paepe, B., De Bleecker, J., Shaibani, A., Ripolone, M., Violano, R., Moggio, M., Barohn, R. J., Dimachkie, M. M., McVey, A. L., Pasnoor, M., Glenn, M., Jawdat, O., Statland, J., Rico, G., Mora, M., Mantegazza, R., Zanotti, S., Needham, M., Mastaglia, F., Liang, C., Dalakas, M. C., Biba, A., Chinoy, H., Lilleker, J. B., Lamb, J., Platt, H., Cooper, R. G., Miller, J. A. L., Roberts, M., Househam, E., Hilton, D., Shivane, A., Bartlett, A., Kissel, J. T., Runk, H., Wicklund, M., Saperstein, D. S., & McKinney, L. R.
- Affiliations
- National Hospital for Neurology and Neurosurgery (GB)
- UCL Queen Square Institute of Neurology (GB)
- National Institutes of Health (US)
- John Radcliffe Hospital (GB)
- ORCID
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2016-11
- Volume
- 47
- Pages
- 218.e1-218.e9
- ISSN
- 0197-4580 (ISSN-L)
- PMC
- PMC5082791
- OpenAlex
- W2509414269
- Cited by
- 51
- References
- 48
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 4 · 2022: 9 · 2021: 2 · 2020: 6 · 2019: 5 · 2018: 7 · 2017: 9 · 2016: 1
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Neurobiology of Aging (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion, other-oa)
- Murdoch University Research Portal (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, cc-by)
- UCL Discovery (University College London) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion, cc-by)
- Funders
- University of Pennsylvania
- Ohio State University
- Pennsylvania State University
- Wellcome Trust
- Università degli Studi di Milano
- National Institute for Health and Care Research (CL-2006-06-010, NF-SI-0515-10082)
- University College London
- University of Oxford
- Murdoch University
- Universitair Ziekenhuis Gent
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Universiteit Gent
- National and Kapodistrian University of Athens
- Universidade de São Paulo
- Faculdade de Medicina da Universidade de São Paulo
- University College London Hospitals NHS Foundation Trust
- Fiona Stanley Hospital
- Medical Research Council (MR/J004758, MR/K006312/1, MR/N003322/1, MR/J004758/1, MR/K000608/1)
- Topics
- Health Sciences › Medicine › Epidemiology › Inflammatory Myopathies and Dermatomyositis
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- sporadic inclusion body myositis, p62, VCP, rare missense variants, genetic susceptibility, neurodegeneration, candidate gene association
- MeSH terms
- Sequestosome-1 Protein, Valosin Containing Protein, Adenosine Triphosphatases, Aged, Aged, 80 and over, Humans, Middle Aged, Risk, Genetic Variation, Cell Cycle Proteins, Myositis, Inclusion Body, Genetic Predisposition to Disease, Genetic Association Studies
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